Publications:

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian Journal Of Pediatrics

Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C

Publication Date: 2021-07-21

Variant appearance in text: HERC2: 1083+177G>A; rs564021813

PubMed Link: 34289880

Variant Present in the following documents:

• 13052_2021_1112_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Frontiers In Genetics

Sun, Yixi Y; Li, Yanfeng Y; Chen, Min M; Luo, Yuqin Y; Qian, Yeqing Y; Yang, Yanmei Y; Lu, Hong H; Lou, Fenlan F; Dong, Minyue M

Publication Date: 2019

Variant appearance in text: HERC2: 1083+177G>A; rs564021813

PubMed Link: 31572438

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: HERC2: 1083+177G>A

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page